Loeys-Dietz Syndrome 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

LDS4 MCID: LYS017 MIFTS: 51	Loeys-Dietz Syndrome 4 (LDS4) Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Loeys-Dietz Syndrome 4

MalaCards integrated aliases for Loeys-Dietz Syndrome 4:

Name: Loeys-Dietz Syndrome 4 ⁵⁶ ¹² ⁵² ⁷³ ²⁹ ⁶ ¹⁵ ⁷¹

Lds4 ⁵⁶ ¹² ⁷³

Aneurysm, Aortic and Cerebral, with Arterial Tortuosity and Skeletal Manifestations ⁵⁶ ¹²

Aortic and Cerebral Aneurysm with Arterial Tortuosity and Skeletal Manifestations ⁷³

Syndrome, Loeys-Dietz, Type 4 ³⁹

Loeys-Dietz Syndrome, Type 4 ¹³

Loeys-Dietz Syndrome Type 4 ⁵²

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal dominant

Miscellaneous:
patients do not have ectopia lentis

HPO:

³¹

loeys-dietz syndrome 4:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Eye diseases Cardiovascular diseases Immune diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0070233

OMIM ⁵⁶ 614816

OMIM Phenotypic Series ⁵⁶ PS609192

MeSH ⁴³ D055947

MedGen ⁴¹ C3553762 CN143719

UMLS ⁷¹ C3553762

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Summaries for Loeys-Dietz Syndrome 4

UniProtKB/Swiss-Prot : ⁷³ Loeys-Dietz syndrome 4: An aortic aneurysm syndrome with widespread systemic involvement. LDS4 is characterized by arterial tortuosity, aortic dissection, intracranial aneurysm and subarachnoid hemorrhage, hypertelorism, bifid uvula, pectus deformity, bicuspid aortic valve, arachnodactyly, scoliosis, foot deformities, dural ectasia, joint hyperflexibility, and thin skin with easy bruising and striae.

MalaCards based summary : Loeys-Dietz Syndrome 4, also known as lds4, is related to marfan syndrome and loeys-dietz syndrome, and has symptoms including wrist sign and steinberg thumb sign. An important gene associated with Loeys-Dietz Syndrome 4 is TGFB2 (Transforming Growth Factor Beta 2), and among its related pathways/superpathways are PAK Pathway and Toll-like Receptor Signaling Pathway. Affiliated tissues include skin, and related phenotypes are emphysema and bicuspid aortic valve

Disease Ontology : ¹² A Loeys-Dietz syndrome that has material basis in heterozygous mutation in the TGFB2 gene on chromosome 1q41.

More information from OMIM: 614816 PS609192

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Related Diseases for Loeys-Dietz Syndrome 4

Diseases in the Loeys-Dietz Syndrome family:

Loeys-Dietz Syndrome 1	Loeys-Dietz Syndrome 2
Loeys-Dietz Syndrome 3	Loeys-Dietz Syndrome 4
Loeys-Dietz Syndrome 5

Diseases related to Loeys-Dietz Syndrome 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 63)

#	Related Disease	Score	Top Affiliating Genes
1	marfan syndrome	30.3	TGFBR2 TGFBR1 TGFB2 FBN1
2	loeys-dietz syndrome	29.7	TGFBR2 TGFBR1 TGFB3 TGFB2-OT1 TGFB2-AS1 TGFB2
3	aortic aneurysm	29.7	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SLC2A10
4	orthostatic intolerance	29.2	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SLC2A10
5	aortic aneurysm, familial thoracic 1	29.1	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
6	loeys-dietz syndrome 3	28.8	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
7	loeys-dietz syndrome 1	28.8	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
8	scoliosis	10.5
9	hypermobile ehlers-danlos syndrome	10.5
10	transient hypogammaglobulinemia of infancy	10.3	TGFBR2 TGFBR1
11	transient hypogammaglobulinemia	10.3	TGFBR2 TGFBR1
12	eisenmenger syndrome	10.3	TGFBR2 TGFBR1
13	alacrima, achalasia, and mental retardation syndrome	10.3
14	isolated ectopia lentis	10.3
15	blood platelet disease	10.3
16	cerebrovascular disease	10.3
17	retinal degeneration	10.3
18	multiple self-healing squamous epithelioma	10.3	TGFBR2 TGFBR1
19	tendinosis	10.3	TGFBR2 TGFB2
20	juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	10.2	TGFBR2 TGFBR1
21	ectopia lentis 1, isolated, autosomal dominant	10.2	TGFBR2 FBN1
22	ectopia lentis 2, isolated, autosomal recessive	10.2	TGFBR2 FBN1
23	peyronie's disease	10.2	TGFB3 TGFB2 SMAD3
24	aortic aneurysm, familial thoracic 6	10.2	TGFBR1 SLC2A10
25	bullous keratopathy	10.2	TGFB3 TGFB2 FBN1
26	keratopathy	10.2	TGFB3 TGFB2 FBN1
27	autosomal dominant non-syndromic intellectual disability 19	10.2	SMAD3 SMAD2
28	mitral valve disease	10.2	TGFB3 TGFB2 FBN1
29	intracranial aneurysm	10.2	TGFBR2 TGFBR1 TGFB2
30	aortic aneurysm, familial thoracic 2	10.2	SLC2A10 FBN1
31	hereditary hemorrhagic telangiectasia	10.1	TGFBR2 TGFBR1 TGFB2
32	tracheal stenosis	10.1	TGFB3 FBN1
33	aortic valve insufficiency	10.1	TGFBR2 TGFBR1 FBN1
34	pulsating exophthalmos	10.1	TGFBR2 TGFBR1
35	collagen disease	10.1	TGFBR2 TGFBR1 FBN1
36	albinism, ocular, with late-onset sensorineural deafness	10.1	SMAD3 SMAD2
37	cutis laxa, autosomal recessive, type ia	10.1	SLC2A10 FBN1
38	hypertrophic scars	10.1	TGFB3 SMAD3 SMAD2
39	patent ductus arteriosus 1	10.1	TGFBR2 TGFBR1 FBN1
40	tuberculoid leprosy	10.1	TGFB3 TGFB2
41	spastic paraplegia 3, autosomal dominant	10.1	TGFB2 SMAD3 SMAD2
42	nephrogenic systemic fibrosis	10.1	SMAD3 SMAD2
43	autosomal recessive cutis laxa type i	10.0	SLC2A10 FBN1
44	renal fibrosis	10.0	TGFBR1 SMAD3 SMAD2
45	cleft palate, isolated	9.9	TGFBR2 TGFBR1 TGFB3 TGFB2
46	craniosynostosis	9.8	TGFBR2 TGFBR1 SMAD3 FBN1
47	phacogenic glaucoma	9.8	TGFB2 FBN1
48	cutis laxa, autosomal dominant 1	9.8	TGFBR2 TGFBR1 SLC2A10 FBN1
49	pulmonary fibrosis, idiopathic	9.7	TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
50	connective tissue disease	9.7	TGFBR2 TGFBR1 TGFB2 SMAD3 FBN1

Graphical network of the top 20 diseases related to Loeys-Dietz Syndrome 4:

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Symptoms & Phenotypes for Loeys-Dietz Syndrome 4

Human phenotypes related to Loeys-Dietz Syndrome 4:

³¹ (show all 30)

#	Description	HPO Frequency	HPO Source Accession
1	emphysema ³¹	occasional (7.5%)	HP:0002097
2	bicuspid aortic valve ³¹	occasional (7.5%)	HP:0001647
3	pneumothorax ³¹	occasional (7.5%)	HP:0002107
4	hypertelorism ³¹	very rare (1%)	HP:0000316
5	scoliosis ³¹	very rare (1%)	HP:0002650
6	pes planus ³¹	very rare (1%)	HP:0001763
7	retrognathia ³¹	very rare (1%)	HP:0000278
8	high, narrow palate ³¹	very rare (1%)	HP:0002705
9	ptosis ³¹	very rare (1%)	HP:0000508
10	aortic dissection ³¹	very rare (1%)	HP:0002647
11	talipes equinovarus ³¹	very rare (1%)	HP:0001762
12	striae distensae ³¹	very rare (1%)	HP:0001065
13	arachnodactyly ³¹	very rare (1%)	HP:0001166
14	dural ectasia ³¹	very rare (1%)	HP:0100775
15	downslanted palpebral fissures ³¹	very rare (1%)	HP:0000494
16	spondylolisthesis ³¹	very rare (1%)	HP:0003302
17	joint hyperflexibility ³¹	very rare (1%)	HP:0005692
18	bruising susceptibility ³¹	very rare (1%)	HP:0000978
19	tall stature ³¹	very rare (1%)	HP:0000098
20	hyperextensible skin ³¹	very rare (1%)	HP:0000974
21	bifid uvula ³¹	very rare (1%)	HP:0000193
22	torticollis ³¹	very rare (1%)	HP:0000473
23	arterial tortuosity ³¹	very rare (1%)	HP:0005116
24	chronic pain ³¹	very rare (1%)	HP:0012532
25	broad uvula ³¹	very rare (1%)	HP:0010809
26	inguinal hernia ³¹		HP:0000023
27	mitral valve prolapse ³¹		HP:0001634
28	abnormality of the sternum ³¹		HP:0000766
29	aortic root aneurysm ³¹		HP:0002616
30	eosinophilic infiltration of the esophagus ³¹		HP:0410151

Symptoms via clinical synopsis from OMIM:

⁵⁶

Genitourinary External Genitalia Male:
inguinal hernia

Skeletal Spine:
scoliosis
spondylolisthesis (rare)

Cardiovascular Vascular:
aortic dissection
aortic root aneurysm
arterial tortuosity
cerebrovascular aneurysm (in some patients)
fusiform dilation and tortuosity of cerebrovascular arteries

Skeletal Hands:
arachnodactyly
steinberg thumb sign

Skeletal:
joint hyperflexibility
tall stature

Skin Nails Hair Skin:
easy bruising
skin striae

Head And Neck Mouth:
high-arched palate
broad or bifid uvula (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
pectus deformity

Skeletal Pelvis:
protrusio acetabularis

Genitourinary External Genitalia Female:
inguinal hernia

Head And Neck Face:
retrognathia

Cardiovascular Heart:
mitral valve prolapse
bicuspid aortic valve (rare)

Neurologic Central Nervous System:
dural ectasia

Skeletal Limbs:
wrist sign

Skeletal Feet:
flat feet
club feet (in some patients)

Head And Neck Eyes:
hypertelorism (in some patients)
downslanting palpebral fissures (in some patients)

Respiratory Lung:
emphysema (rare)
pneumothorax (rare)

Clinical features from OMIM:

614816

UMLS symptoms related to Loeys-Dietz Syndrome 4:

wrist sign, steinberg thumb sign

GenomeRNAi Phenotypes related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

²⁶ (show all 34)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-100	9.92	SMAD2
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-11	9.92	SMAD2 TGFB2 TGFBR1 TGFBR2
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-115	9.92	TGFB2
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-12	9.92	TGFBR2
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-132	9.92	TGFBR2
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-138	9.92	TGFB2
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-14	9.92	TGFB2
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-147	9.92	TGFBR1 TGFBR2
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-162	9.92	TGFBR2
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-165	9.92	TGFBR2
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-169	9.92	TGFBR1
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-172	9.92	SMAD2
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-174	9.92	SMAD2
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-186	9.92	TGFBR2
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-188	9.92	TGFBR2
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-196	9.92	TGFB2
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-200	9.92	TGFBR1
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-203	9.92	SMAD2
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-205	9.92	SMAD2
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-215	9.92	TGFB2
21	Increased shRNA abundance (Z-score > 2)	GR00366-A-22	9.92	TGFBR1
22	Increased shRNA abundance (Z-score > 2)	GR00366-A-25	9.92	SMAD2
23	Increased shRNA abundance (Z-score > 2)	GR00366-A-37	9.92	TGFBR1
24	Increased shRNA abundance (Z-score > 2)	GR00366-A-39	9.92	TGFBR2
25	Increased shRNA abundance (Z-score > 2)	GR00366-A-42	9.92	TGFB2
26	Increased shRNA abundance (Z-score > 2)	GR00366-A-48	9.92	TGFBR2
27	Increased shRNA abundance (Z-score > 2)	GR00366-A-59	9.92	TGFB2
28	Increased shRNA abundance (Z-score > 2)	GR00366-A-60	9.92	TGFB2 TGFBR1 TGFBR2
29	Increased shRNA abundance (Z-score > 2)	GR00366-A-7	9.92	TGFBR2
30	Increased shRNA abundance (Z-score > 2)	GR00366-A-72	9.92	TGFB2
31	Increased shRNA abundance (Z-score > 2)	GR00366-A-73	9.92	TGFB2
32	Increased shRNA abundance (Z-score > 2)	GR00366-A-77	9.92	TGFBR1
33	Increased shRNA abundance (Z-score > 2)	GR00366-A-85	9.92	TGFBR1
34	Increased shRNA abundance (Z-score > 2)	GR00366-A-88	9.92	TGFBR1

MGI Mouse Phenotypes related to Loeys-Dietz Syndrome 4:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	10.06	FBN1 SLC2A10 SMAD2 SMAD3 TGFB2 TGFB3
2	craniofacial	MP:0005382	9.91	FBN1 SMAD2 SMAD3 TGFB2 TGFB3 TGFBR2
3	digestive/alimentary	MP:0005381	9.87	SMAD2 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
4	embryo	MP:0005380	9.86	FBN1 NDUFA9 SMAD2 SMAD3 TGFB2 TGFB3
5	growth/size/body region	MP:0005378	9.85	FBN1 NDUFA9 NEURL2 SMAD2 SMAD3 TGFB2
6	respiratory system	MP:0005388	9.56	FBN1 SLC2A10 SMAD2 TGFB2 TGFB3 TGFBR1
7	skeleton	MP:0005390	9.23	FBN1 SMAD2 SMAD3 TGFB2 TGFB3 TGFBR1

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Drugs & Therapeutics for Loeys-Dietz Syndrome 4

Search Clinical Trials , NIH Clinical Center for Loeys-Dietz Syndrome 4

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Genetic Tests for Loeys-Dietz Syndrome 4

Genetic tests related to Loeys-Dietz Syndrome 4:

#	Genetic test	Affiliating Genes
1	Loeys-Dietz Syndrome 4 ²⁹	TGFB2

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Anatomical Context for Loeys-Dietz Syndrome 4

MalaCards organs/tissues related to Loeys-Dietz Syndrome 4:

⁴⁰

Skin

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Publications for Loeys-Dietz Syndrome 4

Articles related to Loeys-Dietz Syndrome 4:

(show all 11)

#	Title	Authors	PMID	Year
1	Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease. ⁵⁶ ⁶	Gago-Diaz M...Brion M	25046559	2014
2	Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. ⁵⁶ ⁶	Lindsay ME...Loeys BL	22772368	2012
3	TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. ⁶ ⁵⁶	Boileau C...Milewicz DM	22772371	2012
4	2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). ⁶	Erbel R...ESC Committee for Practice Guidelines	25173340	2014
5	Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. ⁶	Boodhwani M...Canadian Cardiovascular Society	24882528	2014
6	Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders. ⁶	Stheneur C...Boileau C	18781618	2008
7	Loeys-Dietz Syndrome ⁶	Loeys BL...Dietz HC	20301312	2008
8	TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. ⁶	Singh KK...Arslan-Kirchner M	16799921	2006
9	Phenotypic variability and diffuse arterial lesions in a family with Loeys-Dietz syndrome type 4. ⁶¹	Mazzella JM...Albuisson J	27440102	2017
10	Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation. ⁶¹	Ritelli M...Colombi M	25163805	2014
11	Diagnostic yield in adults screened at the Marfan outpatient clinic using the 1996 and 2010 Ghent nosologies. ⁶¹	Aalberts JJ...van den Berg MP	22461464	2012

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Genes for Loeys-Dietz Syndrome 4

Genes related to Loeys-Dietz Syndrome 4 (2 elite genes):

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TGFB2	Transforming Growth Factor Beta 2	Protein Coding	1326.69	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	25173340 24882528 25046559 (more) 20301312 22772371 22772368
2	TGFB3	Transforming Growth Factor Beta 3	Protein Coding	415.83	Pathogenic/Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)	20301312
3	TGFB2-OT1	TGFB2 Overlapping Transcript 1	RNA Gene	9.2	GeneCards inferred via : Variants (show sections)
4	TGFB2-AS1	TGFB2 Antisense RNA 1 (Head To Head)	RNA Gene	8.41	GeneCards inferred via : Variants (show sections)
5	TGFBR1	Transforming Growth Factor Beta Receptor 1	Protein Coding	6.41	DISEASES inferred ¹⁵
6	PPFIA2	PTPRF Interacting Protein Alpha 2	Protein Coding	6.37	DISEASES inferred ¹⁵
7	TGFBR2	Transforming Growth Factor Beta Receptor 2	Protein Coding	6.35	DISEASES inferred ¹⁵
8	SMAD3	SMAD Family Member 3	Protein Coding	6.05	DISEASES inferred ¹⁵
9	FBN1	Fibrillin 1	Protein Coding	5.82	DISEASES inferred ¹⁵
10	NDUFA9	NADH:Ubiquinone Oxidoreductase Subunit A9	Protein Coding	5.72	DISEASES inferred ¹⁵
11	SMAD2	SMAD Family Member 2	Protein Coding	5.39	DISEASES inferred ¹⁵
12	SLC2A10	Solute Carrier Family 2 Member 10	Protein Coding	5.27	DISEASES inferred ¹⁵
13	LINC00540	Long Intergenic Non-Protein Coding RNA 540	RNA Gene	5.23	DISEASES inferred ¹⁵
14	NEURL2	Neuralized E3 Ubiquitin Protein Ligase 2	Protein Coding	5.08	DISEASES inferred ¹⁵
15	PPFIA4	PTPRF Interacting Protein Alpha 4	Protein Coding	5.08	DISEASES inferred ¹⁵
16	ULK4	Unc-51 Like Kinase 4	Protein Coding	5.07	DISEASES inferred ¹⁵

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Variations for Loeys-Dietz Syndrome 4

ClinVar genetic disease variations for Loeys-Dietz Syndrome 4:

⁶ (show top 50) (show all 251) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	TGFB3	NM_003239.4(TGFB3):c.883_884del (p.Gly295fs)	deletion	Pathogenic	410268	rs1060502826	14:76429701-76429702	14:75963358-75963359
2	TGFB3	NM_003239.4(TGFB3):c.989G>A (p.Trp330Ter)	SNV	Pathogenic	477652	rs1555360222	14:76427357-76427357	14:75961014-75961014
3	TGFB2	NM_001135599.2:c.595_1245del	deletion	Pathogenic	620591
4	TGFB3	NC_000014.9:g.(?_75958692)_(75980923_?)del	deletion	Pathogenic	832288		14:76425035-76447266
5	TGFB3	NM_003239.5(TGFB3):c.109A>T (p.Lys37Ter)	SNV	Pathogenic	862476		14:76447128-76447128	14:75980785-75980785
6	TGFB2	NM_001135599.3(TGFB2):c.1097C>A (p.Pro366His)	SNV	Pathogenic	37085	rs387907278	1:218610765-218610765	1:218437423-218437423
7	TGFB2	NM_001135599.3(TGFB2):c.771C>A (p.Cys257Ter)	SNV	Pathogenic	37088	rs398122885	1:218607723-218607723	1:218434381-218434381
8	TGFB2	NM_001135599.3(TGFB2):c.297C>A (p.Tyr99Ter)	SNV	Pathogenic	224874	rs760759052	1:218520340-218520340	1:218346998-218346998
9	TGFB2	NM_001135599.3(TGFB2):c.1106_1110del (p.Tyr369fs)	deletion	Pathogenic	224873	rs398122884	1:218610773-218610777	1:218437431-218437435
10	covers 21 genes, none of which curated to show dosage sensitivity		deletion	Pathogenic	224870		1:215588712-222145072
11	TGFB2		deletion	Pathogenic	224871		1:216672181-220202575
12	TGFB2	NM_001135599.3(TGFB2):c.980G>A (p.Arg327Gln)	SNV	Pathogenic/Likely pathogenic	381708	rs1057521150	1:218609453-218609453	1:218436111-218436111
13	TGFB2	NM_001135599.3(TGFB2):c.988C>T (p.Arg330Cys)	SNV	Pathogenic/Likely pathogenic	224872	rs869312903	1:218609461-218609461	1:218436119-218436119
14	TGFB2	NM_001135599.3(TGFB2):c.979C>T (p.Arg327Trp)	SNV	Pathogenic/Likely pathogenic	213845	rs863223792	1:218609452-218609452	1:218436110-218436110
15	TGFB3	NM_003239.4(TGFB3):c.899G>A (p.Arg300Gln)	SNV	Pathogenic/Likely pathogenic	143945	rs587777617	14:76429686-76429686	14:75963343-75963343
16	TGFB3	NM_003239.4(TGFB3):c.898C>T (p.Arg300Trp)	SNV	Pathogenic/Likely pathogenic	203490	rs796051885	14:76429687-76429687	14:75963344-75963344
17	TGFB3	NM_003239.4(TGFB3):c.1034C>G (p.Ser345Ter)	SNV	Pathogenic/Likely pathogenic	410269	rs1060502827	14:76427312-76427312	14:75960969-75960969
18	TGFB3	NM_003239.4(TGFB3):c.353-1G>C	SNV	Likely pathogenic	477636	rs1555360883	14:76438062-76438062	14:75971719-75971719
19	TGFB2	NM_001135599.3(TGFB2):c.631C>T (p.Arg211Cys)	SNV	Likely pathogenic	547806	rs1436552875	1:218607460-218607460	1:218434118-218434118
20	TGFB3	NM_003239.4(TGFB3):c.927-1G>C	SNV	Likely pathogenic	487471	rs767548724	14:76427420-76427420	14:75961077-75961077
21	TGFB2	NM_001135599.3(TGFB2):c.1042C>T (p.Arg348Cys)	SNV	Likely pathogenic	495213	rs1553303352	1:218610710-218610710	1:218437368-218437368
22	TGFB3	NM_003239.4(TGFB3):c.916del (p.Tyr306fs)	deletion	Likely pathogenic	543951	rs1555360362	14:76429669-76429669	14:75963326-75963326
23	TGFB3	NM_003239.5(TGFB3):c.1219A>T (p.Lys407Ter)	SNV	Likely pathogenic	857481		14:76425550-76425550	14:75959207-75959207
24	TGFB3	NM_003239.4(TGFB3):c.517-1G>C	SNV	Likely pathogenic	569027	rs1566682530	14:76437599-76437599	14:75971256-75971256
25	TGFB3	NC_000014.9:g.(?_75958692)_(75965705_?)del	deletion	Likely pathogenic	665632		14:76425035-76432048	14:75958692-75965705
26	TGFB3	NC_000014.9:g.(?_75958692)_(75971728_?)del	deletion	Likely pathogenic	663430		14:76425035-76438071	14:75958692-75971728
27	TGFB3	NM_003239.5(TGFB3):c.926+1G>A	SNV	Likely pathogenic	858860		14:76429658-76429658	14:75963315-75963315
28	TGFB3	NM_003239.5(TGFB3):c.517-2A>G	SNV	Likely pathogenic	862608		14:76437600-76437600	14:75971257-75971257
29	TGFB2	NM_001135599.3(TGFB2):c.542G>A (p.Arg181His)	SNV	Likely pathogenic	374302	rs1057518684	1:218578622-218578622	1:218405280-218405280
30	TGFB2	NM_001135599.3(TGFB2):c.303G>A (p.Lys101=)	SNV	Conflicting interpretations of pathogenicity	380608	rs147052890	1:218520346-218520346	1:218347004-218347004
31	TGFB3	NM_003239.4(TGFB3):c.1230A>G (p.Lys410=)	SNV	Conflicting interpretations of pathogenicity	314447	rs373100223	14:76425539-76425539	14:75959196-75959196
32	TGFB3	NM_003239.4(TGFB3):c.294G>A (p.Ser98=)	SNV	Conflicting interpretations of pathogenicity	314454	rs778214495	14:76446943-76446943	14:75980600-75980600
33	TGFB3	NM_003239.4(TGFB3):c.517-6C>G	SNV	Conflicting interpretations of pathogenicity	314450	rs45586636	14:76437604-76437604	14:75971261-75971261
34	TGFB3	NM_003239.4(TGFB3):c.339G>A (p.Gly113=)	SNV	Conflicting interpretations of pathogenicity	314453	rs886050798	14:76446898-76446898	14:75980555-75980555
35	TGFB3	NM_003239.4(TGFB3):c.442C>T (p.Arg148Ter)	SNV	Conflicting interpretations of pathogenicity	390113	rs1057523647	14:76437972-76437972	14:75971629-75971629
36	TGFB2	NM_001135599.3(TGFB2):c.594+12TTG[12]	short repeat	Conflicting interpretations of pathogenicity	228320	rs10482769	1:218578685-218578686	1:218405343-218405344
37	TGFB3	NM_003239.4(TGFB3):c.873G>A (p.Pro291=)	SNV	Conflicting interpretations of pathogenicity	239524	rs370006165	14:76429712-76429712	14:75963369-75963369
38	TGFB3	NM_003239.4(TGFB3):c.744C>A (p.Ile248=)	SNV	Conflicting interpretations of pathogenicity	239522	rs45477900	14:76431941-76431941	14:75965598-75965598
39	TGFB3	NM_003239.4(TGFB3):c.293C>T (p.Ser98Leu)	SNV	Conflicting interpretations of pathogenicity	192131	rs142047577	14:76446944-76446944	14:75980601-75980601
40	TGFB2	NM_001135599.3(TGFB2):c.37C>A (p.His13Asn)	SNV	Conflicting interpretations of pathogenicity	295485	rs763918203	1:218520080-218520080	1:218346738-218346738
41	TGFB2	NM_001135599.3(TGFB2):c.272G>A (p.Arg91His)	SNV	Conflicting interpretations of pathogenicity	213835	rs10482721	1:218520315-218520315	1:218346973-218346973
42	TGFB2	NM_001135599.3(TGFB2):c.440C>T (p.Pro147Leu)	SNV	Conflicting interpretations of pathogenicity	213840	rs149533093	1:218578520-218578520	1:218405178-218405178
43	TGFB2	NM_001135599.3(TGFB2):c.294_308del (p.Ala100_Tyr104del)	deletion	Conflicting interpretations of pathogenicity	37086	rs398122883	1:218520337-218520351	1:218346995-218347009
44	TGFB3	NM_003239.4(TGFB3):c.973C>T (p.Arg325Ter)	SNV	Conflicting interpretations of pathogenicity	477651	rs1555360229	14:76427373-76427373	14:75961030-75961030
45	TGFB3	NM_003239.4(TGFB3):c.164G>A (p.Ser55Asn)	SNV	Conflicting interpretations of pathogenicity	416061	rs143229915	14:76447073-76447073	14:75980730-75980730
46	TGFB3	NM_003239.4(TGFB3):c.97G>A (p.Gly33Ser)	SNV	Uncertain significance	410270	rs781353815	14:76447140-76447140	14:75980797-75980797
47	TGFB3	NM_003239.4(TGFB3):c.516+4A>T	SNV	Uncertain significance	477638	rs1252391096	14:76437894-76437894	14:75971551-75971551
48	TGFB3	NM_003239.4(TGFB3):c.1186C>T (p.Pro396Ser)	SNV	Uncertain significance	477633	rs899613458	14:76425583-76425583	14:75959240-75959240
49	TGFB3	NM_003239.4(TGFB3):c.813G>C (p.Lys271Asn)	SNV	Uncertain significance	477645	rs147601018	14:76429772-76429772	14:75963429-75963429
50	TGFB3	NM_003239.4(TGFB3):c.754+5C>T	SNV	Uncertain significance	477641	rs754211381	14:76431926-76431926	14:75965583-75965583

UniProtKB/Swiss-Prot genetic disease variations for Loeys-Dietz Syndrome 4:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	TGFB2	p.Arg299Trp	VAR_068932	rs863223792
2	TGFB2	p.Arg302Cys	VAR_068933	rs869312903
3	TGFB2	p.Pro338His	VAR_068934	rs387907278

Sources

Expression for Loeys-Dietz Syndrome 4

Search GEO for disease gene expression data for Loeys-Dietz Syndrome 4.

Sources

Pathways for Loeys-Dietz Syndrome 4

Pathways related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

(show all 47)

#	Super pathways	Score	Top Affiliating Genes
1	PAK Pathway ⁶³ Show member pathways Antioxidant Action of Vitamin-C ⁶³ Epithelial Adherens Junctions ⁶³	13.23	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SLC2A10
2	Toll-like Receptor Signaling Pathway ³⁶ ¹ Show member pathways Chagas disease (American trypanosomiasis) ³⁶ Hepatitis B ³⁶ Hepatitis C ³⁶ Regulation of toll-like receptor signaling pathway ¹	13.02	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
3	Endometrial cancer ³⁶ Show member pathways Acute myeloid leukemia ³⁶ Binding of TCF/LEF-CTNNB1 to target gene promoters ⁶⁵ Chronic myeloid leukemia ³⁶ Colorectal cancer ³⁶ Pancreatic cancer ³⁶ Prostate cancer ³⁶ Signal transduction PTEN pathway ²² Thyroid cancer ³⁶	12.87	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
4	Pathways in cancer ³⁶	12.84	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
5	Gastric cancer ³⁶ Show member pathways Breast cancer ³⁶ Hepatocellular carcinoma ³⁶	12.77	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
6	Th17 cell differentiation ³⁶ Show member pathways IL-22 Pathway ⁶³ Immune response IL-22 signaling pathway ²² Inflammatory bowel disease (IBD) ³⁶ Th1 and Th2 cell differentiation ³⁶	12.59	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
7	Human Embryonic Stem Cell Pluripotency ⁶³ Show member pathways Factors Promoting Cardiogenesis in Vertebrates ⁶³	12.48	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
8	Endocytosis ³⁶	12.37	TGFBR2 TGFBR1 SMAD3 SMAD2
9	Human T-cell leukemia virus 1 infection ³⁶	12.37	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
10	Cell cycle ³⁶ ¹	12.33	TGFB3 TGFB2 SMAD3 SMAD2
11	Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer ⁶⁵ Show member pathways Downregulation of SMAD2/3-SMAD4 transcriptional activity ⁶⁵ Interactions of Tat with host cellular proteins ⁶⁵ Signaling by TGF-beta Receptor Complex ⁶⁵ SMAD2/SMAD3-SMAD4 heterotrimer regulates transcription ⁶⁵ TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition) ⁶⁵	12.27	TGFBR2 TGFBR1 SMAD3 SMAD2
12	Wnt / Hedgehog / Notch ⁴	12.26	TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
13	Cell cycle Role of SCF complex in cell cycle regulation ²² Show member pathways Cell cycle ESR1 regulation of G1/S transition ²² Cell cycle Regulation of G1/S transition (part 1) ²² Immune response MIF-JAB1 signaling ²²	12.23	TGFBR2 TGFBR1 TGFB2 SMAD3 SMAD2
14	Colorectal Cancer Metastasis ⁶³	12.2	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
15	Hippo signaling pathway ³⁶	12.17	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
16	Cellular senescence (KEGG) ³⁶	12.15	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
17	FoxO signaling pathway ³⁶ Show member pathways PLK2 and PLK4 events ¹ Polo-like kinase signaling events in the cell cycle ¹	12.1	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3
18	TGF-beta Signaling Pathway (WikiPathways) ¹	12.08	TGFBR2 TGFBR1 SMAD3 SMAD2
19	Integrated Breast Cancer Pathway ¹	12.06	TGFBR2 TGFBR1 SMAD2
20	NRF2 pathway ¹	12.04	TGFBR2 TGFB2 SLC2A10
21	Apelin signaling pathway ³⁶	12.01	TGFBR1 SMAD3 SMAD2
22	Osteoclast differentiation ³⁶	11.97	TGFBR2 TGFBR1 TGFB2
23	Cytokine production by Th17 cells in CF (Mouse model) ²² Show member pathways Cytokine production by Th17 cells in CF ²²	11.9	TGFBR2 TGFBR1 SMAD3 SMAD2
24	AGE-RAGE signaling pathway in diabetic complications ³⁶	11.85	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
25	Angiogenesis (CST) ⁴	11.8	TGFBR1 TGFB3 TGFB2
26	SMAD2/3 MH2 Domain Mutants in Cancer ⁶⁵ Show member pathways BMP Signalling Pathway ¹ Canonical and Non-Canonical TGF-B signaling ¹ Loss of Function of SMAD2/3 in Cancer ⁶⁵ Loss of Function of SMAD4 in Cancer ⁶⁵ Loss of Function of TGFBR1 in Cancer ⁶⁵ Loss of Function of TGFBR2 in Cancer ⁶⁵ SMAD2/3 Phosphorylation Motif Mutants in Cancer ⁶⁵ SMAD4 MH2 Domain Mutants in Cancer ⁶⁵ TGFBR1 KD Mutants in Cancer ⁶⁵ TGFBR1 LBD Mutants in Cancer ⁶⁵ TGFBR2 Kinase Domain Mutants in Cancer ⁶⁵ TGFBR2 MSI Frameshift Mutants in Cancer ⁶⁵	11.8	TGFBR2 TGFBR1 SMAD3 SMAD2
27	TGF-beta Signaling Pathways ⁶⁴	11.78	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
28	Development_TGF-beta receptor signaling ²²	11.77	TGFBR2 TGFBR1 SMAD3 SMAD2
29	TGF-beta receptor signaling activates SMADs ⁶⁵ Show member pathways Downregulation of TGF-beta receptor signaling ⁶⁵ Signaling by TGF-beta Receptor Complex in Cancer ⁶⁵	11.75	TGFBR2 TGFBR1 SMAD3 SMAD2
30	Transcription_P53 signaling pathway ²²	11.73	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
31	Elastic fibre formation ⁶⁵ Show member pathways Molecules associated with elastic fibres ⁶⁵	11.71	TGFB3 TGFB2 FBN1
32	Adherens junction ³⁶	11.7	TGFBR2 TGFBR1 SMAD3
33	Th17 Differentiation ⁶⁴ Show member pathways IL-21 Signaling and its Primary Biological Effects in Different Immune Cell Types ⁶⁴	11.69	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
34	TGF-beta Receptor Signaling (WikiPathways) ¹	11.65	TGFBR2 TGFBR1 SMAD3 SMAD2
35	IL-2 Gene Expression in Activated and Quiescent T-Cells ⁶³ Show member pathways TOB in T-Cell Signaling ⁶³	11.57	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
36	TGF-beta receptor signaling (Pathway Interaction Database) ¹	11.54	TGFBR2 TGFBR1 TGFB3 SMAD3 SMAD2
37	Cell adhesion_Plasmin signaling ²²	11.52	TGFBR2 TGFBR1 TGFB2
38	TGF-beta signaling pathway (KEGG) ³⁶	11.47	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
39	ALK1 signaling events ¹ Show member pathways ALK1 pathway ¹	11.25	TGFBR2 TGFBR1 TGFB3
40	Glypican 1 network ¹	11.25	TGFBR2 TGFBR1 TGFB3 SMAD2
41	NTHi-Induced Signaling ⁶³	11.13	TGFBR2 TGFBR1 SMAD3
42	IL-4 Signaling and its Primary Biological Effects in Different Immune Cell Types ⁶⁴	10.99	TGFBR2 TGFBR1 TGFB3 TGFB2
43	Regulation of cytoplasmic and nuclear SMAD2/3 signaling ¹	10.97	SMAD3 SMAD2
44	Hypothesized Pathways in Pathogenesis of Cardiovascular Disease ¹	10.95	TGFBR2 TGFBR1 SMAD3 SMAD2 FBN1
45	TGF-B Signaling in Thyroid Cells for Epithelial-Mesenchymal Transition ¹	10.94	SMAD3 SMAD2
46	IL-9 Signaling and its Primary Biological Effects in Different Immune Cell Types ⁶⁴	10.76	TGFB3 TGFB2
47	Extracellular vesicle-mediated signaling in recipient cells ¹	10.58	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2

Sources

GO Terms for Loeys-Dietz Syndrome 4

Cellular components related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cell surface	GO:0009986	9.55	TGFBR2 TGFBR1 TGFB3 PPFIA4 PPFIA2
2	SMAD protein complex	GO:0071141	8.96	SMAD3 SMAD2
3	heteromeric SMAD protein complex	GO:0071144	8.62	SMAD3 SMAD2

Biological processes related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

(show all 49)

#	Name	GO ID	Score	Top Affiliating Genes
1	protein phosphorylation	GO:0006468	10.08	ULK4 TGFBR2 TGFBR1 TGFB2 SMAD2
2	negative regulation of cell proliferation	GO:0008285	10.04	TGFBR2 TGFB3 TGFB2 SMAD3 SMAD2
3	response to hypoxia	GO:0001666	9.92	TGFBR2 TGFB3 TGFB2 SMAD3
4	heart development	GO:0007507	9.92	TGFBR2 TGFBR1 TGFB2 SMAD2 FBN1
5	in utero embryonic development	GO:0001701	9.91	TGFBR2 TGFBR1 TGFB3 SMAD3 SMAD2
6	skeletal system development	GO:0001501	9.89	TGFBR1 TGFB2 SMAD3 FBN1
7	cell cycle arrest	GO:0007050	9.88	TGFBR1 TGFB2 SMAD3
8	kidney development	GO:0001822	9.87	TGFBR1 TGFB2 FBN1
9	response to glucose	GO:0009749	9.83	TGFBR2 SMAD2 NDUFA9
10	cellular response to transforming growth factor beta stimulus	GO:0071560	9.82	TGFBR1 SMAD3 FBN1
11	positive regulation of stress fiber assembly	GO:0051496	9.81	TGFBR1 TGFB3 SMAD3
12	positive regulation of pathway-restricted SMAD protein phosphorylation	GO:0010862	9.8	TGFBR1 TGFB3 TGFB2
13	SMAD protein signal transduction	GO:0060395	9.78	TGFB3 TGFB2 SMAD3 SMAD2
14	ventricular septum morphogenesis	GO:0060412	9.76	TGFBR2 TGFBR1 TGFB2
15	gastrulation	GO:0007369	9.74	TGFBR2 SMAD3 SMAD2
16	embryonic cranial skeleton morphogenesis	GO:0048701	9.73	TGFBR2 TGFBR1 SMAD3 SMAD2
17	transforming growth factor beta receptor signaling pathway	GO:0007179	9.73	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
18	regulation of transforming growth factor beta receptor signaling pathway	GO:0017015	9.71	SMAD3 SMAD2
19	cell-cell junction organization	GO:0045216	9.71	TGFB3 TGFB2 SMAD3
20	adrenal gland development	GO:0030325	9.7	SMAD3 SMAD2
21	signal transduction involved in regulation of gene expression	GO:0023019	9.7	SMAD3 SMAD2
22	transmembrane receptor protein serine/threonine kinase signaling pathway	GO:0007178	9.7	TGFBR2 TGFBR1
23	ventricular trabecula myocardium morphogenesis	GO:0003222	9.69	TGFBR1 TGFB2
24	positive regulation of SMAD protein signal transduction	GO:0060391	9.69	TGFBR1 TGFB3
25	cardiac epithelial to mesenchymal transition	GO:0060317	9.68	TGFBR1 TGFB2
26	atrioventricular valve morphogenesis	GO:0003181	9.68	TGFBR2 TGFB2
27	nodal signaling pathway	GO:0038092	9.68	SMAD3 SMAD2
28	primary miRNA processing	GO:0031053	9.67	SMAD3 SMAD2
29	salivary gland morphogenesis	GO:0007435	9.67	TGFB3 TGFB2
30	membranous septum morphogenesis	GO:0003149	9.67	TGFBR2 TGFB2
31	pathway-restricted SMAD protein phosphorylation	GO:0060389	9.67	TGFBR2 TGFBR1 TGFB2
32	activin receptor signaling pathway	GO:0032924	9.67	TGFBR2 TGFBR1 SMAD3 SMAD2
33	pericardium development	GO:0060039	9.66	SMAD3 SMAD2
34	embryonic foregut morphogenesis	GO:0048617	9.66	SMAD3 SMAD2
35	SMAD protein complex assembly	GO:0007183	9.65	SMAD3 SMAD2
36	common-partner SMAD protein phosphorylation	GO:0007182	9.64	TGFBR2 SMAD2
37	negative regulation of macrophage cytokine production	GO:0010936	9.63	TGFB3 TGFB2
38	response to cholesterol	GO:0070723	9.63	TGFBR2 TGFBR1 SMAD2
39	wound healing	GO:0042060	9.63	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2
40	secondary palate development	GO:0062009	9.62	TGFBR2 TGFB3 TGFB2 SMAD2
41	regulation of binding	GO:0051098	9.61	SMAD3 SMAD2
42	regulation of transforming growth factor beta2 production	GO:0032909	9.61	TGFB2 SMAD3
43	endocardial cushion fusion	GO:0003274	9.6	TGFBR2 TGFB2
44	positive regulation of tight junction disassembly	GO:1905075	9.58	TGFBR1 TGFB3
45	positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	GO:1905007	9.58	TGFBR2 TGFBR1 TGFB2
46	paraxial mesoderm morphogenesis	GO:0048340	9.56	SMAD3 SMAD2
47	uterine wall breakdown	GO:0042704	9.55	TGFB3 TGFB2
48	negative regulation of transforming growth factor beta receptor signaling pathway	GO:0030512	9.43	TGFBR2 TGFBR1 TGFB3 SMAD3 SMAD2 SLC2A10
49	positive regulation of epithelial to mesenchymal transition	GO:0010718	9.1	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SMAD2

Molecular functions related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

(show all 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	R-SMAD binding	GO:0070412	9.55	SMAD3 SMAD2
2	activin binding	GO:0048185	9.54	TGFBR2 TGFBR1
3	enhancer binding	GO:0035326	9.52	SMAD3 SMAD2
4	co-SMAD binding	GO:0070410	9.51	SMAD3 SMAD2
5	transforming growth factor beta binding	GO:0050431	9.5	TGFBR2 TGFBR1 TGFB3
6	transmembrane receptor protein serine/threonine kinase activity	GO:0004675	9.49	TGFBR2 TGFBR1
7	I-SMAD binding	GO:0070411	9.48	TGFBR1 SMAD2
8	primary miRNA binding	GO:0070878	9.46	SMAD3 SMAD2
9	SMAD binding	GO:0046332	9.46	TGFBR2 TGFBR1 SMAD3 SMAD2
10	transforming growth factor beta-activated receptor activity	GO:0005024	9.43	TGFBR2 TGFBR1
11	type I transforming growth factor beta receptor binding	GO:0034713	9.43	TGFBR2 TGFB3 SMAD2
12	transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	GO:0030618	9.4	SMAD3 SMAD2
13	type III transforming growth factor beta receptor binding	GO:0034714	9.37	TGFB3 TGFB2
14	type II transforming growth factor beta receptor binding	GO:0005114	9.13	TGFBR1 TGFB3 TGFB2
15	transforming growth factor beta receptor binding	GO:0005160	8.92	TGFB3 TGFB2 SMAD3 SMAD2

Sources

Sources for Loeys-Dietz Syndrome 4

¹ BioSystems

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Loeys-Dietz Syndrome 4 (LDS4)

Aliases & Classifications for Loeys-Dietz Syndrome 4

MalaCards integrated aliases for Loeys-Dietz Syndrome 4:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Loeys-Dietz Syndrome 4

Related Diseases for Loeys-Dietz Syndrome 4

Diseases in the Loeys-Dietz Syndrome family:

Diseases related to Loeys-Dietz Syndrome 4 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Loeys-Dietz Syndrome 4:

Symptoms & Phenotypes for Loeys-Dietz Syndrome 4

Human phenotypes related to Loeys-Dietz Syndrome 4:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Loeys-Dietz Syndrome 4:

GenomeRNAi Phenotypes related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

MGI Mouse Phenotypes related to Loeys-Dietz Syndrome 4:

Drugs & Therapeutics for Loeys-Dietz Syndrome 4

Genetic Tests for Loeys-Dietz Syndrome 4

Genetic tests related to Loeys-Dietz Syndrome 4:

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ClinVar genetic disease variations for Loeys-Dietz Syndrome 4:

UniProtKB/Swiss-Prot genetic disease variations for Loeys-Dietz Syndrome 4:

Expression for Loeys-Dietz Syndrome 4

Pathways for Loeys-Dietz Syndrome 4

Pathways related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

GO Terms for Loeys-Dietz Syndrome 4

Cellular components related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

Biological processes related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

Molecular functions related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

Sources for Loeys-Dietz Syndrome 4